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Research
Impact of prenatal screening and diagnostic testing on trends in Down syndrome births and terminations in Western Australia 1980 to 2013To assess how prenatal screening and diagnostic testing have impacted the diagnosis, termination and birth prevalence of Down syndrome in Western Australia...
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Community participation for girls and women living with Rett syndromeThis paper aimed to describe the relationships between level of impairment and participation in community activities for girls and women with Rett syndrome.
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Towards a molecular characterization of autism spectrum disorders: An exome sequencing and systems approachThis paper profiles the functional pattern of DNA variants found at a higher rate in patients with autism spectrum disorder (ASD), X-linked intellectual...
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Pregnancy and birth outcomes of mothers with intellectual disability and their infants: Advocacy needed to improve well-beingFor mothers with intellectual disability, modifiable risk factors for adverse outcomes need addressing
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Feasibility of assessing diet with a mobile food record for adolescents and young adults with down syndromeThe aim was to assess the feasibility of assessing diet with an image-based mobile food record application in 51 adolescents and young adults with Down syndrome.
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Impacts of caring for a child with the CDKL5 disorder on parental wellbeing and family quality of lifeInvestigate impacts on maternal health and family quality of life in families with a child with the CDKL5 disorder
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Transition to adulthood for young people with intellectual disability: the experiences of their familiesA number of themes emerged from the qualitative data which included parents' views and concerns about the capacity of their young adult to adapt and change to life in adulthood
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Validation of intellectual disability coding through hospital morbidity records using an intellectual disability population-based database in Western AustraliaTo investigate how well intellectual disability (ID) can be ascertained using hospital morbidity data compared with a population-based data source.
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Improved Survival in Down Syndrome over the Last 60 Years and the Impact of Perinatal Factors in Recent DecadesImproved survival for children born with Down syndrome over the last 60 years has occurred incrementally, but disparities still exist
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Admissions in Children with Down Syndrome: Experience of a Population-Based Cohort Followed from BirthThis study describes patterns of hospitalisations for children and young people with Down syndrome in Western Australia.